RESEARCH ARTICLE
Self-Perceptions From People With Down Syndrome
Brian G. Skotko,1†* Susan P. Levine,2† and Richard Goldstein3
1
Division of Genetics, Department of Medicine, Children’s Hospital Boston, Boston, Massachusetts
2
Family Resource Associates, Inc., Shrewsbury, New Jersey
3
Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, Boston, Massachusetts
Received 16 March 2011; Accepted 10 July 2011
This study asks people with Down syndrome (DS), ages 12 and
older, about their self-perception so that their information could
be shared with new and expectant parents of children with DS.
We analyzed valid and reliable survey instruments from 284
people with DS on the mailing lists of 6 non-profit DS organizations around the country. Among those surveyed, nearly 99%
of people with DS indicated that they were happy with their lives,
97% liked who they are, and 96% liked how they look. Nearly 99%
people with DS expressed love for their families, and 97% liked
their brothers and sisters. While 86% of people with DS felt they
could make friends easily, those with difficulties mostly had
isolating living situations. A small percentage expressed sadness
about their life. In our qualitative analysis, people with DS
encouraged parents to love their babies with DS, mentioning
that their own lives were good. They further encouraged healthcare professionals to value them, emphasizing that they share
similar hopes and dreams as people without DS. Overall, the
overwhelming majority of people with DS surveyed indicate they
live happy and fulfilling lives. 2011 Wiley-Liss, Inc.
Key words: Down syndrome; prenatal diagnosis; attitudes; selfesteem; trisomy 21
INTRODUCTION
As international discussion is mounting over new prenatal testing
for Down syndrome (DS) [Skotko, 2009], one perspective has been
noticeably absent from the research literature—the voices of people
with DS, themselves. While autobiographies have been written
[Kingsley and Levitz, 1994; Burke and McDaniel, 2001], speeches
given [Murray, 2010], and personal Web pages created [Seale,
2001], people with DS have not had their views collectively and
systematically analyzed. And, yet, their views are central to some of
the most pressing questions from expectant couples: What does it
mean to have DS? Will my baby with DS be happy? Will my baby
have a good life?
People with DS have varying levels of ‘‘self-concept’’—that is,
how they think and feel about themselves. For typically developing
persons, this principle has been generally divided into six developmental stages, which has been shown to be the same, albeit
delayed, for people with DS: self-recognition (the ability to recognize oneself), self-representation (the ability to distinguish oneself
2011 Wiley-Liss, Inc.
How to Cite this Article:
Skotko BG, Levine SP, Goldstein R. 2011. Selfperceptions from people with down
syndrome.
Am J Med Genet Part A 9999:1–10.
from others), self-description (the ability to articulate features
about oneself), self-assertion (the ability to be motivated toward
a behavioral goal), self-regulation (the ability to change one’s
behaviors based on situation), and self-evaluation (the ability to
reflect on oneself) [DesRosters and Busch-Rossnagel, 1997; Glenn
and Cunningham, 2004]. This last developmental category, also
referred to as self-esteem, has only been studied in small samples of
people with DS.
A number of small-scale studies have looked at the question of
self-concept and self-esteem in those with DS. These findings have
suggested that, with regard to the domains of academic competence, physical abilities, and social acceptance, young persons with
DS held very positive views of themselves, which became even more
positive with age [Begley, 1999]. Young children with DS, ages 4–6,
had a self-concept that was similar to that of developmentally agematched controls [Cuskelly and de Jong, 1999]; and young adults
with DS rated themselves positively on measures of self-esteem
[Glenn and Cunningham, 2001]. Through a combination of interviews, photographs, and standardized tests, another cohort of
young adults with DS, ages 17–24, all had a high self-esteem, not
impacted by their varying degrees of awareness about their genetic
Additional supporting information may be found in the online version of
this article.
Grant sponsor: Tim White Foundation; Grant sponsor: Fred Lovejoy
House-Staff Research and Education Fund; Grant sponsor: Joel and
Barbara Alpert Endowment for the Children of the City.
†
co-first authors.
*Correspondence to:
Brian G. Skotko, M.D., MPP, Children’s Hospital Boston, 300 Longwood
Avenue, Hunnewell 5, Boston, MA 02115.
E-mail: [email protected]
Published online 00 Month 2011 in Wiley Online Library
(wileyonlinelibrary.com).
DOI 10.1002/ajmg.a.34235
1
2
condition [Cunningham and Glenn, 2004]. When asked to describe
themselves, these young adults had ‘‘a strong bias towards positive
rather than negative descriptions’’ [Glenn and Cunningham, 2004].
When they made social comparisons, they tended to make more
‘‘downward comparisons’’ (i.e., ‘‘I’m better than. . .’’) than
‘‘upward comparisons’’ (i.e., ‘‘I’m worse than. . .’’) [Glenn and
Cunningham, 2004].
Together, these studies suggest that people with DS tend to have a
positive self-esteem, but, until now, no large-scale study had been
performed within the United States. As increasingly more couples
are learning about a diagnosis of DS prenatally, the need is also
growing for more accurate self-perspectives from people living with
the condition. Today’s expectant couples are also asking for more
nuanced information—simply knowing that people with DS have a
positive self-esteem no longer seems to be sufficient. Expectant
couples want to know the ability of people with DS to make friends,
engage in meaningful relationships, and participate in family
dynamics. In this study, we ask people with DS about their lives
and—for the first time—their advice for expectant couples.
MATERIALS AND METHODS
Participants
This study was nested in a larger cross-cultural, epidemiologic
research project on family attitudes toward persons with DS.
Attitudinal perspectives from parents/guardians and brothers/sisters will be published separately. The project was approved as
protocol H-26552 by the Institutional Review Board of Boston
University Medical Center.
We purposely limited participation in this study to people with
DS who were 12 years of age or older, as younger persons would be
more dependent on their parents or guardians for survey completion. Previous literature also suggests that people with DS begin to
make relative social comparisons and form complex social understandings about their condition around the verbal mental age of 8
[Cunningham and Glenn, 2004], which generally corresponds to
our eligibility criterion based on chronological age. Five persons
with DS, recruited through non-profit DS organizations, participated in the piloting of our survey instrument. For validity and
reliability testing of the questionnaire, all 300 families associated
with the Down Syndrome Society of Rhode Island were invited to
participate. No national DS registry exists; as such, the surveys were
ultimately distributed to all of the 4,924 family members of 6 nonprofit DS organizations, chosen for their size, cultural compositions, and geographic distribution throughout the United States:
Down Syndrome Association of Atlanta (757 members), Massachusetts Down Syndrome Congress (1,143 members), Mild High
Down Syndrome Association (Denver, CO; 877 members),
Triangle Down Syndrome Network (Raleigh, NC; 280 members),
Down Syndrome Association of Central Texas (371 members), and
Down Syndrome Association of Los Angeles (1,574 members).
Survey Instrument
Phase I: Piloting. At the start of this study, there were no
validated or reliable self-completing survey instruments that
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
measured self-concept in people with DS. The measurements
used in previous studies all required in-person administration
[Begley and Lewis, 1998; Begley, 1999; Cuskelly and de Jong,
1999; Glenn and Cunningham, 2001, 2004], which was not feasible
for a project of this national scale. To this extent, we created a 4-page
questionnaire for people with DS who were 12 years of age or older
(published as an Supplementary Appendix online) with direct
input from participant representatives. Previous studies have
shown that people with DS are able to comprehend and respond
reliably to carefully constructed questions about their selfperceptions [Begley, 1999]. We measured self-perception, selfesteem, and attitudes toward other family members with 4-item
Likert scale responses (‘‘Yes,’’ ‘‘Most of the Time,’’ ‘‘Once in a
While,’’ and ‘‘No’’), as Likert scales have been shown to be the best
measure when surveying children [van Laerhoven et al., 2004]. As
optional measures, participants were asked to report sociodemographic information. Through open-ended questions, we asked
about participants’ perspectives on DS since researchers have
increasingly called for more qualitative data from patients with
genetic conditions [Bernhardt, 2008].
For a focus group that met for two sessions, five persons with DS
were recruited through known contacts of the researchers. They
were observed completing survey drafts, allowing us to edit the
surveys for additional clarity.
Phase II: Validity and reliability testing. We next distributed
our questionnaire to all family members of the Down Syndrome
Society of Rhode Island for validity and reliability testing. We
estimate about 39% of their families have children with DS who are
12 years of age or older. Those who responded to the first mailing
received an identical questionnaire 4 weeks later for test–retest
reliability. In total, 14 responses (12%) from people with DS were
received after the first mailing, and 7 (50%) of these respondents
completed the second mailing.
Construct validity was determined by measuring discriminant
validity on the first mailing, which was defined a priori as a
Pearson’s correlation between 0.4 and þ0.4 between dissimilar
constructs on our survey instrument. The constructs were identified as question 14 (positive construct) and question 19 (negative
construct). The survey met our criteria for discriminant validity
(r ¼ 0.37, N ¼ 14), providing evidence that respondents understood the differences between questions with dissimilar constructs.
Reliability was determined by measuring test–retest reliability on
the second mailing, which was defined a priori as >80% of
participants responding 1 point difference on our Likert scale.
Two questions failed to meet this reliability and were eliminated
from our final survey instrument used for national distribution.
The responses from our participants in this Phase were not included
in our final data analyses. The final survey had a Flesch–Kincaid
grade level of 2.6; and the survey was translated into Spanish and
checked by another native Spanish-speaking person for accuracy.
Phase III: Study. After our surveys were deemed valid and
reliable, they were bundled in a national mailing to 6 non-profit
DS organizations using evidence-based best practices: We provided
self-addressed stamped envelopes [Edwards et al., 2002]; nonrespondent families were mailed a second copy of the questionnaire
approximately 6 weeks after receiving the first copy [Edwards et al.,
2002; Nakash et al., 2006]; the questionnaire packet was mailed on
SKOTKO ET AL.
university stationery [Edwards et al., 2002]; and the survey was kept
purposely short to encourage completion [Edwards et al., 2002].
Each mailed packet contained separate surveys, cover letters, and
response envelopes for (a) parents/guardians, (b) brother and
sisters, and (c) people with DS. (The results from the other family
members will be published separately.) The packet included
instructions asking parents and guardians to give their son or
daughter with DS their survey along with their own response
envelope. This survey began with a simple introduction stating
that the person with DS could (a) complete the survey on their own,
returning it back to their parents/guardians in the provided envelope or (b) seek assistance from their parents/guardians. In the latter
cases, parents/guardians were asked in their cover letter to be
instructive but not directive: ‘‘It is okay to help your son or daughter
complete their surveys. You can even read the survey to them.
However, we ask that you simply interpret any difficult words or
phrases, but do not direct them in responding in a particular way.
For example, with the question, ‘‘Do you feel you make a difference
in other people’s lives?,’’ you can explain what the word,
‘‘difference,’’ means, if needed, to your child with DS; but please
do not coax or direct them to respond in a particular way. The
results will only be as meaningful and believable as they are
truthful.’’
At all times, confidentiality of the respondents was maintained.
The survey packets were mailed only to the non-profit DS organizations, who then forwarded the mailings to their members.
Packets written in Spanish were mailed by the non-profit DS
organizations to their known members who were exclusively
Spanish-speaking. Contact information was received only when
the person with DS voluntarily chose to respond to the survey.
Upon receipt of the surveys, contact information was separated
from the questionnaire and stored in a locked file cabinet. No
personal identifiable information was linked to the responses in our
database. Through unique identifier numbers assigned to each
mailed packet, we were able to link family questionnaires together
for intra-family comparisons. One author randomly checked 15%
of the data entry by the research assistant, achieving 99% accuracy
with differences resolved.
Data Analyses
Our survey collected both quantitative and qualitative responses so
mixed methods were used to analyze the data. Means and standard
deviations were calculated for each of the close-ended Likert
questions. To examine the relationships between the responses,
paired Pearson’s correlations were calculated with significance
designated at P-values of 0.05, 0.01, and 0.001. A composite functional activity score was calculated for each person with DS by
summing the 7-point Likert statements from the linked parent
surveys for each functional activity (e.g., walking, preparing meals,
going on dates). Any response of ‘‘not applicable’’ was assigned a
score of ‘‘1,’’ with the composite functional activity score ranging
between 7 and 77. Higher scores represented higher levels of
parental perceived functionality. To adjust these scores, we divided
the composite functional activity score by the participant’s age in
years. From the same linked parent surveys, we obtained a 7-point
health conditions score—‘‘To what extent does your son or
3
daughter with DS, in your opinion, have significant health
problems?’’—with ‘‘1’’ being ‘‘not a problem’’ and ‘‘7’’ being
‘‘very much of a problem.’’ We also obtained a 7-point educational
score—‘‘To what extent does your son or daughter with DS, in your
opinion, have significant educational/learning difficulties?’’—with
‘‘1’’ being ‘‘not a problem’’ and ‘‘7’’ being ‘‘very much of a
problem.’’
To explore which variables might best predict the 10 attitudinal
responses of our participants, we performed mixed stepwise, multivariate regression analyses. Variables were entered at the probability
level of 0.05, and the standardized b and R2 are reported. To
determine significance of our models, ANOVA was performed,
and df, F, and P-values for the models that achieved significance at
0.05 level are reported. The independent variables included
the parent-reported age-adjusted composite functional activity
score, parent-reported health conditions score, parent-reported
educational challenges score, parent-reported birth order, and
participant-reported sociodemographic variables (age, race,
gender, number of brothers and sisters, state, religion, educational
level, and living situation).
The responses to the two open-ended questions about advice for
expectant parents and physicians were coded by the first two
authors using the Constant Comparative Method of Qualitative
Analysis [Glaser and Strauss, 1967]. Thematic saturation was
achieved after reviewing 30 responses for the first question and
35 responses for the second question. De novo themes were not
subsequently identified. At least one author coded 319 surveys for
each question; approximately 10% were blindly coded by the
second author with coding agreement achieved at 97%. Differences
were discussed, and mutual agreement was obtained. We report
those themes that were used by at least 5% of respondents.
RESULTS
Respondents
We received 319 responses from persons with DS. Of the parents
who responded to their surveys, about 39% reported that their
children with DS were 12 years of age or older. Given that 4,924
families were invited to participate in our research, we would have
asked, approximately, 4,924 0.39 or 1,925 people with DS ages 12
or older to complete a questionnaire. As such, our estimated
response rate was 319/1,925 or 17%.
Of the 319 responses, 23 were from individuals who returned the
survey but indicated that they did not wish to respond. An additional 4 surveys were excluded because they were from persons
younger than 12 years of age. A further 8 were excluded because
their questionnaires did not have an identifier number, which
would have allowed us to link their surveys with their parents’
responses. The remaining 284 surveys were included in our analysis;
as such, our functional response rate was 284/1,925 or 15%. Not
everyone responded to each question so the number of responses
varied per item. Twelve participants chose not to provide their date
of birth, but were included in the analyses with the assumption that
the majority, if not all, were in the targeted age group.
The average age of the person with DS responding to the survey
was 23.4 years (N ¼ 266; SD ¼ 8.9, range: 12.1–51.9). They had, on
4
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
average, 2.0 brothers and sisters (N ¼ 273; SD ¼ 1.3) and 2.0
parents (N ¼ 273; SD ¼ 0.4). As can be seen from Table I, respondents were proportionally distributed by geography, and there was
diversity among Hispanic origin and religion. The functional
TABLE I. Characteristics of Respondents With Down Syndrome
(N ¼ 284)*
Background variables
Sex (N ¼ 267)
Male
Female
Age (N ¼ 266)
12 and <18
18 and <25
25 and <30
30 and <35
35 and <40
40
Spanish/Hispanic/Latino (N ¼ 267)
Yes
No
Race (N ¼ 275)
White
Black or African American
Asian
Other
Multiple
US State (N ¼ 277)
California
Massachusetts
Colorado
Georgia
North Carolina
Texas
Other
Religious affiliation (N ¼ 264)
Protestant
Catholic
Jewish
Atheist
Mormon
Other
Educational level (N ¼ 269)
Currently in 1st to 8th grade
Currently in High school
Finished High school and working
Finished High school, but not working
Currently in College/University
Finished college and working
Finished college, but not working
Living situation (N ¼ 278)
Living with one/both parents/guardians
Living alone in apartment/home
Living with roommates in apt/home
Living in group home
Other
*Percentages might not add to 100% due to rounding.
%
54
46
32
32
14
10
5
6
10
90
88
2
2
5
2
30
25
21
8
6
4
6
skills of our respondents with DS, as rated by their parents and
adjusted for age, were normally distributed (M ¼ 2.2; SD ¼ 0.6;
Shapiro–Wilk W-test, P ¼ 0.43; Fig. 1). This means that our study
surveyed persons with DS who had a range of functional skills.
Respondents had a diversity of educational backgrounds, with the
majority being in high school or post-high school. The majority of
respondents identified themselves as white, who lived at home with
one or both of their parents or guardians.
Feelings and Perceptions About Self
The overwhelming majority of people with DS are happy with their
lives, like how they look, and like who they are (Table II). The degree
of happiness was inversely related to the number of parents/stepparents involved in their lives—that is, those persons with DS
who had more step-parents were less likely to be absolute in their
affirmation of happiness. Religion also played a minor role
[Happiness ¼ 1.1 þ 0.1 Number of parents 0.2 Catholic, Multiple
religions, or Other religion þ 0.2 Protestant or Mormon (R2 ¼ 0.05,
F[0.05;3;266] ¼ 4.9, P < 0.01)]. The degree of liking who they are
was partially related to their living situation. Those respondents
who were living in a group home were less likely to be as happy as
those people with DS living with roommates, alone, or with their
parents. Geographic location also was related (Like Self ¼ 1.5 0.5
Living with parents, Living alone, Living with roommates, or Other
living situation þ 0.5 Living in group home þ 0.1 MA or CA 0.1
CO, NC, TX, or GA (R2 ¼ 0.22, F[0.05;5;251] ¼ 13.6, P < 0.0001)).
Appreciation of their own appearance was inversely related to
parental perception of significant health problems—that is, those
41
40
6
6
2
6
17
28
34
13
6
1
1
84
6
7
3
3
FIG. 1. An age-adjusted composite functional activity score was
calculated for each person with DS by summing their parents’
responses to 7-point Likert statements about functional activities
(e.g., walking, preparing meals, going on dates) and dividing that
score (range: 7–77) by the participant’s age in years. The ageadjusted composite functional skills of our respondents with DS
were normally distributed.
SKOTKO ET AL.
5
TABLE II. Feelings and Perspectives About Self
Statements
Are you happy with your life?
Do you like who you are?
Do you like how you look?
Are you sad about your life?
N
276
277
278
277
Ma
1.2
1.2
1.2
3.7
TABLE IV. Feelings and Perspectives About Others
% Agreeb
99
97
96
4
SD
0.5
0.5
0.6
0.6
N Ma SD % Agreeb
276 1.5 0.9
86
275 1.5 0.8
85
Statements
Is it easy to make friends?
Do you feel that you help other
people?
Do you love your family?
Do you like your brother(s) or
sisters(s)?
Do you feel your brother(s) or
sisters(s) is a good friend?
Do you feel your parents pay
more attention to your brother(s)
or sister(s) and not enough to
you?
a
People with Down syndrome were asked to rate their level of agreement with the
statements on a Likert scale with ‘‘1’’ being ‘‘yes,’’ ‘‘2’’ being ‘‘most of the time,’’ ‘‘3’’ being
‘‘once in a while,’’ and ‘‘4’’ being ‘‘no.’’
b
Percentage of people with DS who circled ‘‘yes’’ or ‘‘most of the time’’ for that statement.
277 1.1 0.3
258 1.2 0.5
99
97
255 1.4 0.8
89
256 3.4 1.0
15
a
People with DS were asked to rate their level of agreement with the statements on a Likert
scale with ‘‘1’’ being ‘‘yes,’’ ‘‘2’’ being ‘‘most of the time,’’ ‘‘3’’ being ‘‘once in a while,’’ and
‘‘4’’ being ‘‘no.’’
b
Percentage of people with DS who circled ‘‘yes’’ or ‘‘most of the time’’ for that statement.
parents who thought their children had many health problems were
more likely to have sons and daughters who were not satisfied with
their looks [Like how look ¼ 1.1 þ 0.1 Health conditions (R2 ¼ 0.02,
F[0.05;1;252] ¼ 5.0, P < 0.03)]. All of these positive feelings of selfesteem were positively correlated (Table III).
A small number of people with DS indicated that they were sad
about their lives. Being in high school or just out of high school was
more associated with this feeling [Sad ¼ 3.8 0.1 High school,
Finished high school and working, Finished high school and not
working, or College þ 0.1 Grade school, Finished college and working,
Finished college and not working (R2 ¼ 0.02, F[0.05;1;276] ¼ 6.4,
P < 0.01)]. This feeling was negatively correlated, as would be
expected on a validated instrument, with the measures of positive
esteem (Table III).
nearly all respondents reported love. The fondness of brothers and
sisters was associated, in part, with race and geographic location
[Like Brothers and Sisters ¼ 1.6 0.4 (white, black, Asian, American
Indian/Alaska Native, or Native Hawaiian/Pacific Islander) þ 0.4
Multiple races 0.2 CO, MA, or TX þ 0.1 GA (R2 ¼ 0.21,
F[0.05;4;257] ¼ 16.5, P < 0.01)]. A sizable majority of respondents
consider their brother or sister a good friend; and those who did
tended to have more siblings, with some geographic variation
[Brother and sister good friend ¼ 1.4 0.1 Number of siblings 0.2
TX þ 0.2 CO, MA, NC, or GA (R2 ¼ 0.02, F[0.05;1;276] ¼ 6.4,
P < 0.01)]. Only a small percentage of people with DS felt that
their parents paid a disproportionate amount of attention to
their siblings. Those who did tended to live alone or have more
Feelings and Perspectives About Others
The overwhelming majority of people with DS reported that they
love their family, including their brothers and sisters (Table IV).
There were no identified predictors for loving one’s family, since
TABLE III. Correlation Among Responses on Survey Statements
A
B
C
D
E
F
G
H
I
J
A
—
0.61*
0.32*
0.09
0.30*
0.21*
0.30*
0.12
0.12
0.12
B
C
D
E
F
G
H
I
J
—
0.19†
0.06
0.28*
0.10
0.33*
0.18†
0.22*
0.08
—
0.11
0.32*
0.09
0.21*
0.11
0.08
0.03
—
0.19†
0.11
0.01
0.03
0.09
0.00
—
0.12‡
0.15‡
0.12
0.36*
0.21*
—
0.06
0.22*
0.23*
0.08
—
0.13‡
0.04
0.08
—
0.51*
0.01
—
0.06
—
The statements were as follows: A: Are you happy with your life?; B: Do you like who you are?; C: Is it easy to make friends?; D: Do you feel that you help other people?; E: Do you like how
you look?; F: Do you love your family?; G: Are you sad about your life?; H: Do you like your brothers(s) or sisters(s)?; I: Do you feel your brother(s) or sisters(s) is a good friend?;
J: Do you feel your parents pay more attention to your brother(s) or sister(s) and not enough to you?
*P < 0.001.
†
P < 0.01.
‡
P < 0.05.
6
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
parentally perceived learning disabilities [Parent attention to other
siblings ¼ 2.8 0.2 CO, MA, NC, GA, or CA þ 0.2 TX 0.4 Living
alone or Other living arrangement þ 0.4 Living with parents, Living
with roommates, or Living in group home 0.1 Educational issues
(R2 ¼ 0.13, F[0.05;5;223] ¼ 6.6, P < 0.0001)].
The majority of people with DS indicated that they can make
friends easily. Those who did not were more likely to be living in a
group home [Easy to make friends ¼ 2.2 0.4 Living with parents,
Living alone, Living with roommates, or Other living situation þ 0.4
Living in group home (R2 ¼ 0.03, F[0.05;2;258] ¼ 3.6, P < 0.03)].
The majority of respondents, particularly those with more parentally perceived functional skills, also felt that they help other people.
People with DS who had finished college and did not have a job were
less likely to feel this way, with some geographic considerations
(Help other people ¼ 4.0 0.3 Functionality/year 1.3 Grade
school, High school, Finished high school and working, Finished
high school and not working, College, or Finished college and
working þ 1.3 Finished college and not working þ 0.1 CO, MA, or
GA þ 0.3 NC 0.2 TX þ 0.1 CA (R2 ¼ 0.12, F[0.05;5;241] ¼ 6.3,
P < 0.0001)].
Some of the participants offered parenting tips (e.g., ‘‘Let the
child have a dream and go for it’’; ‘‘You must give the baby more
attention than your other children’’; They need to give extra help for
their child’s speech. . .be careful about heart problems. . .’’; ‘‘Treat
them like a normal child’’; ‘‘. . .teach the baby sign language. . .travel
with the baby. . .get the baby’s eyes checked. . .’’). Patience received
special emphasis (e.g., ‘‘The baby has to work hard. Help the baby
reach their goals’’; ‘‘If things come hard, don’t give up’’; ‘‘Be patient
because I found out that it is harder for me to learn’’).
Some survey participants pointed out the similarities between
people with DS to those without DS (e.g., ‘‘The baby is just like you
and me, just a little different’’; ‘‘That the kid is not different from a
regular person just because they have a disability’’; ‘‘I feel like a
regular person’’). Some people shared negative feelings about DS
(e.g., ‘‘Sometimes your baby will be sick a lot. Take them to the
hospital’’; ‘‘I hate special needs. I want to be a regular person like my
brother’’). Others directly encouraged parents to continue their
pregnancies (e.g., ‘‘Take the baby home’’; ‘‘They should keep their
kid. Don’t abort’’; ‘‘You have a nice baby. Please take care of the
baby’’).
Advice for New Parents
Advice for Physicians
We analyzed all of the answers to the open-ended questions, with
63% of participants responding to the question on advice that they
would give to new parents of children with DS (Table V). Many
people with DS wanted to emphasize to new parents that there will
be mutual love between the baby and them (e.g., ‘‘If you love the
baby with all your heart, that is what really matters’’; ‘‘The baby will
bring you happiness’’; ‘‘Love them, and they will love you lots’’).
They mentioned that their own lives are good (e.g., ‘‘If everyone was
as happy as me, that would be great’’; ‘‘It’s not so bad having DS’’;
‘‘I am very happy in my life. I have friends who care about and love
me’’; ‘‘It’s okay to have special needs’’) and underscored that new
parents need not worry (e.g., ‘‘Don’t be sad. We can all learn’’;
‘‘Everything is going to be okay’’; ‘‘Don’t be afraid. Your baby will
have a wonderful life’’).
Approximately 66% of survey participants answered the openended question, which asked what they would like physicians to
know about life with DS (Table VI). Nearly half of the respondents
mentioned that their lives are good or that they are happy with their
lives (e.g., ‘‘I am proud of who I am’’; ‘‘My life is perfect’’; ‘‘I really
do love my life’’; ‘‘My life rocks’’; ‘‘I work hard and I am happy’’; ‘‘I
have DS, and I’m cool’’). Some asked to be valued (e.g., ‘‘I am not
any different from other people’’; ‘‘Look at me. I can do all sorts of
things you didn’t think I could’’; ‘‘Don’t label us. People with DS do
a lot of things’’; ‘‘I would like parents to value a person with DS’’).
Others emphasized that they have the same hopes and dreams as
people without DS (e.g., ‘‘It’s easy. Just follow your dreams’’; ‘‘We
are great people. There are many possibilities for us. We can be
TABLE VI. What Would You Like to Tell Doctors About Your Life With
Down Syndrome?
TABLE V. If a New Mom and Dad Just Had a Baby With Down Syndrome,
What Would You Like to Tell Them?
Category
Love your baby/your baby loves you
Life is good/happy to be alive/positive
Suggested parenting tips
(e.g., feed your baby)
Don’t worry/it’s okay
Described physical characteristics of DS
Information about school/learning
A negative comment about DS/I don’t like. . .
Described a degree of specialness
People with DS have different needs
a
Totala
61
60
36
%
35
34
21
33
15
12
10
9
8
19
9
7
6
5
5
Number of respondents who incorporated this category in their response to this question;
percentages will not add to 100%, as responses might contain more than one category.
Category
Life is good/I’m happy to be alive/positive
Please take care of our medical needs
Information about school/learning
Value us/we’re okay
Information about participation in sports
We have same hopes and dreams
Description of family/love
A negative comment about selves
Information about friends
Discuss positive self-esteem
Information about their job
Discussion of religion/service
a
Totala
85
50
27
27
24
21
21
21
18
15
12
9
%
46
27
15
15
13
11
11
11
10
8
7
5
Number of respondents who incorporated this category in their response to this question;
percentages will not add to 100%, as responses might contain more than one category.
SKOTKO ET AL.
anything!’’; ‘‘I would like to get married some day. I would like to
move into an apartment with other people’’; ‘‘I am just a guy who
likes football, baseball, and basketball’’).
Other respondents commented on their friends (e.g., ‘‘I like
hanging out with my brother and my friends’’; ‘‘I like to visit friends
and play X-Box with them’’; ‘‘I have nice friends and [like] going out
in the community’’; ‘‘All my friends have DS like me. It’s not so bad
to live with it’’), family (e.g., ‘‘My mom says I’m the perfect son for
her. She says she is lucky I’m her boy’’; ‘‘I am loved by my family,
grandparents, many aunts and uncles and cousins’’), or school/
community activities (e.g., ‘‘I work. I go to school. I have friends and
I have fun’’; ‘‘I volunteer at the civic theater as an usher’’; ‘‘I like to
walk to the harbor to the bank’’; ‘‘I swim in the summer, play golf in
the fall, and snow ski in the winter’’; ‘‘One of my challenges I beat
was passing [the state’s standardized exam]. After I passed I got my
high school diploma’’). Some responses did not address the question (e.g., ‘‘I would like to say ‘hi’’’; ‘‘It’s important to know what sex
your child will be’’; ‘‘Maybe if they would listen to me’’). Others
shared negative viewpoints (e.g., ‘‘I would like to get rid of the extra
chromosome’’; ‘‘I am stuck with my parents due to my health
[diabetes]’’; ‘‘I hate being DS but I do have a good life and friends’’;
‘‘DS affects how I think and learn compared to a regular person’’; ‘‘I
wish I could drive a car’’; ‘‘I don’t like it, but I deal with it in a
positive way’’).
DISCUSSION
Overall Results
The overwhelming majority of people with DS, ages 12 and older,
who were included in our survey responded that they are living
happy and fulfilling lives. They love their families—brothers
and sisters included. Such positive self-esteem was associated, to
varying degrees, with the number of parents at home and the
person’s religion, geographic location, living situation, and health
condition.
Yet, even more intriguing was what was not associated with their
reported happiness. The functional skills of the person, for example,
had no bearing on their self-esteem. Our participants had normally
distributed functional skills when adjusted for age; and, still, even
those with the lowest or the highest skills reported the same levels of
personal satisfaction. Further, our respondents had varying degrees
of learning challenges, as reported by their parents; but, regardless,
they responded with similar positivity.
When asked to give advice to expectant parents, participants
affirmed that they were happy with their lives. They reassured
expectant parents that their baby with DS will love them and that
their family will be better as a result of that child. These themes
of self-worth, value, and acceptance were echoed again when
participants were asked to provide advice to physicians. To this
extent, the people with DS that we surveyed have declared that
they are very satisfied—and even positive—about their lives,
despite acknowledging the challenges that might accompany the
genetic condition.
Societies have not always portrayed life with DS in a similar tone.
Parents of sons and daughters with DS have consistently reported
that the initial information received from their healthcare providers
7
was often inaccurate, incomplete, or offensive [Skotko, 2005a,b;
Skotko and Bedia, 2005; Skotko et al., 2009a,b]. People with DS,
themselves, witness their intellectual disability being disparaged
when the ‘‘R-word’’ is used in popular song lyrics and playground
banters (www.r-word.org). And, still today, institutions remain
open around the globe for children with DS who are unwanted by
their families (http://www.disabilityrightsintl.org/). Like groups
facing discrimination before them, their self-descriptions contrast
to the ways in which others might describe them. An open question
remains whether societies will ultimately embrace their message as
accepted principle [Skotko, 2009].
Of course, the high self-esteem and personal satisfaction from
our participants with DS was not uniform. A small percentage of
people with DS did report that they were sad. They tended to be
young adults in high school or just out of high school. Of course,
such a time is often awkward and uncomfortable for many teenagers
without DS; so such results might simply underscore that people
with DS experience many of the same social and emotional struggles
as their peers without disabilities [McGuire and Chicoine, 2006;
Couwenhoven, 2007; Chicoine and McGuire, 2010]. Additionally
or alternatively, the result might highlight the unique challenges
faced by people with DS during this important transition age. While
peers without DS might be making plans for college or jobs, they
might be realizing, perhaps for the first time, that their futures will
be different. As friends move away and life no longer has the
standardized structure of school, loneliness can set in. While not
all young adults with DS in high school felt this way, this study
underscores that special attention should be given to the emotional
needs of high school students with DS.
People with DS largely felt that they could easily make friends
throughout their lives; yet, those who struggled were often young
adults and adults living in group-home settings. Such living situations can be—but do not need to be—socially limiting. Often,
people living in group homes interact with the same small number
of people on a daily basis; and, frequently because of lack of
transportation, they have no independent access to other persons,
where friendships can be maintained. Also, people in group homes
often have no say in the choice of housemates. As such, a difficult
relationship with someone in the group home might color their
feelings about friendships, in general. Additionally or alternatively,
people with DS living in group homes might be characteristically
different from those living in other environments. For example,
adults with DS in group homes might have more intellectual
challenges or come from families where they were less socially
integrated. At minimum, this study underscores the need to foster
more meaningful friendships for people with DS living in grouphome settings. This might be through increased choice of housemates, better matching of housemates, or more social opportunities
outside of the group-home setting.
Limitations of Current Study
This study is subject to selection bias. Only families who were on the
mailing lists of non-profit DS organizations were sampled, making
it possible that their views are not representative of all people with
DS in the United States. Although efforts are being put in place by
national organizations like the National Down Syndrome Society
8
(www.ndss.org), no national population-based registry currently
exists for people with DS. Until such a time occurs, researchers have
no other way of sampling large cohorts of families other than
through the non-profit DS organizations. We purposely invited
every family of the sampled non-profit DS organizations to participate in our research, so as to not further restrict the selection bias
within the organizations. We also took particular care to invite only
those members of the sampled non-profit DS organizations, so as to
not allow unfettered selection bias that might have occurred, for
example, with an open-invitation web-based survey. In the end,
over 300 people with DS responded, making the results powerful,
even if they are not representative.
This study is also subject to non-response bias. Our response rate
of 17%, however, is within average standards—for example, the
Pew Research Center cites between 15% and 25% response rates
on their studies [The Pew Research Center for the People and the
Press 2010]. Emerging research shows that the response rates on
national surveys have been declining over time and that lowered
response rates do not necessarily reflect lower survey accuracy
[Singer, 2006]. The non-profit DS organizations do not collect
reliable and robust demographics on their members, so we were
unable to know how representative our participants were of their
members, at large.
The small SDs on our Likert scale questions indicate that our
respondents shared very similar opinions. While we made every
attempt to be inclusive of people with varying functional abilities
through this mailed questionnaire, people with DS who had
extensive behavioral problems or medical conditions might have
been uninterested, unable, or unwilling to participate. The possibility remains that these persons could have more negative viewpoints, making our results a positive overrepresentation of the
attitudes of all people with DS. Without a national, populationbased registry, however, no accurate estimates exist for how many
people with DS might have such extensive problems. Surveying
such individuals by mailed questionnaires might also be unfeasible.
Our results might also be limited by parental influences on
participants’ responses. We took all possible steps that we could
imagine with a mailed survey to mitigate this effect: the people with
DS were given their own cover letter stating that they could
complete the survey on their own; they received their own return
envelope so that they could seal their responses before returning to
their parents for mailing; their parents were also asked directly in
their cover letter to be instructive, but not directive, if they were
asked for help. Beyond direct observation, which was not possible
for a study of this scope, we do not have a way of assessing how many
families might have deviated from this request.
Our results are also limited by the lack of diversity of our
respondents, who did not include many black/African Americans,
Asian, American Indian, or Alaska Native Americans. The results
from the parent/guardian respondents (published separately) also
showed that their median gross household income of $100,000 was
significantly higher than the national median gross household
income of $49,777 reported in the last Census income publication
in 2009 [DeNavas-Walt et al., 2010]. Americans of certain social and
ethnocultural backgrounds might also be less likely to respond to
mailed surveys. Our results, however, did include 10% representation from Spanish/Hispanic/Latino Americans, compared to 16%
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
of Americans who identified themselves as such in the last US
Census [Humes et al., 2011]. We purposely chose to oversample in
areas of the country with high numbers of Spanish/Hispanic/Latino
Americans, and we also made all of our survey materials available in
Spanish.
Future Research
People with DS have rarely been surveyed in the research literature.
For healthcare professionals and policymakers to best understand
their needs and concerns, researchers should continue to seek their
involvement in new survey tools. The results from this study open
many more questions: What are the hopes and dreams of people
with DS? What are their experiences in the educational system,
the healthcare system, and the workplace? What barriers do they
face during their daily lives? What personal issues concern them the
most? When a DS population-based registry is established, such
questions can and should be asked of a representative sample.
This study purposely did not compare people with DS to
matched individuals without DS, so we cannot surmise how similar
or dissimilar their attitudes might be to the general population.
Future studies might ask whether people with DS are more ‘‘happy
with their life’’ than people who do not have DS. Do people with DS
‘‘like how they look’’ more than people who do not have DS?
Such studies would, in essence, wrestle with the very meaning of
‘‘disability’’: are the limitations defined or perceived?
Implications
The American College of Obstetricians and Gynecologists, the
American College of Medical Genetics, the National Society of
Genetic Counselors, the National Down Syndrome Society, and the
National Down Syndrome Congress wrote a consensus statement in
2009 calling for all prenatal counseling about DS to be complete,
consistent, non-judgmental, and non-coercive. Included in the
counseling should be balanced information that ‘‘accurately
reflect aspects of the medical, educational, and social realms of
individuals with DS and the challenges and opportunities they
and their families face’’ [American College of Obstretricians and
Gynecologists, 2009]. This study meets this charge, in part, by
beginning to capture reflections from people with DS about their
very own lives.
These data can now be incorporated into informational prenatal
booklets about DS, such as the one created by Lettercase, Inc.
(www.lettercase.org) in collaboration with the national organizations issuing the 2009 consensus statement. Our findings can also be
incorporated into educational opportunities for medical students,
genetic counseling students, nurses, and the public, at large. Healthcare professionals might use the study as a point of discussion
during conversations about forthcoming non-invasive prenatal
diagnostic testing for DS, and policymakers might consider these
self-reflections as a way to better inform legislation about people
with DS.
Perhaps more importantly, these reflections of people with DS
can be shared during prenatal counseling sessions. When an expectant couple receives a prenatal diagnosis of DS, healthcare professionals can now share evidence-based statements from actual
SKOTKO ET AL.
people with DS, with the understanding that these statements are
based on the population we sampled:
*
*
*
*
*
*
The overwhelming majority of people with DS are happy with
their lives.
The overwhelming majority of people with DS like who they are
and how they look.
The overwhelming majority of people with DS love their families,
including their brothers and sisters.
The majority of people with DS feel they can easily make friends.
The majority of people with DS feel that they help other people.
Only a small percentage of people with DS feel sad about their
lives, which appears to be associated, in part, to transition points
of adolescence.
ACKNOWLEDGMENTS
We would like to thank Allen Crocker, M.D., for his mentorship on
this research; Alison Clapp, MLIS, of Children’s Hospital Boston
Library for her assistance with our literature search; Heather
Reppert for database entry; Gil Levine for survey processing; Zoila
Martinez of the National Down Syndrome Congress for translating
the survey materials into Spanish; and Sion Kim Harris, Ph.D.
C.P.H., of the Clinical Research Program, Survey and Measurement
Core, of Children’s Hospital Boston, for her assistance with our
statistical analyses. We further thank Maureen Gallagher of the
Massachusetts Down Syndrome Congress; Cynthia Jones of the
Down Syndrome Association of Atlanta; Laurie Herrera of the Mile
High Down Syndrome Association; Claudia Lowe of the Down
Syndrome Society of Rhode Island; Leigh Menconi and Martin
Osterhout of the Triangle Down Syndrome Network; Suzanne
Shepherd of the Down Syndrome Association of Central Texas;
and Gail Williamson of the Down Syndrome Association of Los
Angeles for the distribution of the surveys to their organizational
memberships. This project was supported by grants from the Tim
white Foundation, the Fred Lovejoy House-Staff Research and
Education Fund, and the Joel and Barbara Alpert Endowment
for the Children of the City.
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